title: Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
abstract: Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.
authors.affiliation: Departments of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Suzumori
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Yukako
authors.initials: Y
authors.lastname: Muramatsu
authors.forename: Kumiko
authors.initials: K
authors.lastname: Yanagi
authors.forename: Kyoko
authors.initials: K
authors.lastname: Kumagai
authors.forename: Seiji
authors.initials: S
authors.lastname: Mizuno
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Mayumi
authors.initials: M
authors.lastname: Sugiura-Ogasawara
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000175:diagnosis* / Q000235:genetics; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C411984:BCOR protein, human; D011518:Proto-Oncogene Proteins; D012097:Repressor Proteins
keywords: BCOR; genetic counseling; prenatal diagnosis